Anencefalia: presentación de 1 caso / Anencephaly. Presentation of a case

La anencefalia es una de las anomalías del tubo neural más comunes. Estas anomalías son defectos congénitos que afectan el tejido que crece en el cerebro y la médula espinal, el objetivo de la presente investigación es describir un caso de anencefalia que es un defecto congénito poco frecuente en el neonato en la fusión de varios sitios de cierre del tubo neural. Defecto en la fusión de varios sitios de cierre del tubo neural ocurre cuando el extremo encefálico o cabeza del tubo neural no logra cerrarse, generalmente entre el 23º y el 26º día del embarazo, dando como resultado una malformación cerebral congénita caracterizada por la ausencia parcial o total del cerebro, cráneo, y cuero cabelludo; su frecuencia varía entre 0.5 y 2 por cada 1 000 nacimientos. Se presenta un caso de un primer gemelar que nace con ausencia de cráneo, con puntuación de apgar bajo que a pesar de las medidas de sostén fallece a las 20 horas de edad(AU)

The anencephaly is one of the most common anomalies of the neural tube. These anomalies are congenital defects that affect the tissues that grow in the brain and the spinal cord, the objective of this investigation is to describe a case of anencephaly that is an infrequent congenital defect in the newborns in the fusion of several closing places of the neural tube. The defect in the fusion of several closing places of the neural tube occurs when the encephalic extreme or head of the neural tube does not close, generally between the 23º and the 26º day of the pregnancy, causing a congenital cerebral malformation characterized by the partial or total absence of the brain, skull, and scalp; its frequency varies between 0.5 and 2 per 1000 births. It is presented a case of a first twin who comes to the world with absence of skull, with a low apgar, and in spite of the ways to keep him alive, he died after 20 hours(EU)

[Impact of the fortification of food with folic acid on neural tube defects in Costa Rica]. / Impacto de la fortificación de alimentos con ácido fólico en los defectos del tubo neural en Costa Rica.

OBJECTIVE: Evaluate the impact of the fortification of food with folic acid on prevalence trends for neural tube defects (NTD) and the infant mortality rate (IMR) associated with this disorder in Costa Rica. METHODS: The surveillance data from the Congenital Disease Registry Center and the Central American Population Center were analyzed. The neural tube defects considered were anencephaly, spina bifida, and encephalocele. The trends from 1987-2009, as well as the differences in prevalence and mortality rates prior to and up to 12 years after food fortification with folic acid, were examined (95% confidence interval [CI]). The contribution of fortification to the decrease in the overall IMR was determined. RESULTS: During 1987-1997, prior to the period of food fortification with folic acid, NTD prevalence was 12/10 000 births (95% CI: 11.1-12.8), whereas in 2009 prevalence was 5.1/10 000 births (3.3-6.5). The IMR associated with NTD was 0.64/1 000 births (46-0.82) in 1997 and 0.19/1 000 births (0.09-9.3) in 2009. There were significant decreases in the IMR associated with NTD and the prevalence of NTD: 71%, and 58%, respectively (P < 0.05). The overall IMR decreased from 14.2/1 000 births in 1997 to 8.84/1 000 births in 2009 (P < 0.05). The decrease in the IMR associated with NTD contributed to an 8.8% decrease in the overall IMR from 1997 to 2009. CONCLUSIONS: Food fortification with folic acid caused a decrease in NTD at birth and the IMR associated with this malformation during the 1997-2009 period. It also led to a decrease in the overall IMR. There is a temporal relationship between the introduction of fortification policies and the decrease in prevalence and mortality associated with NTD. This intervention should be promoted in Latin American and Caribbean countries where it has not yet been implemented.

Impacto de la fortificación de alimentos con ácido fólico en los defectos del tubo neural en Costa Rica / Impact of the fortification of food with folic acid on neural tube defects in Costa Rica

OBJETIVO: Evaluar el impacto de la fortificación de alimentos con ácido fólico en las tendencias de las prevalencias de los defectos del tubo neural (DTN) y la tasa de mortalidad infantil (TMI) por este trastorno en Costa Rica. MÉTODOS: Se analizaron los datos de vigilancia del Centro de Registro de Enfermedades Congénitas y el Centro Centroamericano de Población. Se consideraron defectos del tubo neural la anencefalia, la espina bífida y el encefalocele. Se examinaron las tendencias durante 1987-2009, así como las diferencias de tasas (intervalo de confianza [IC] 95 por ciento) de prevalencia y mortalidad antes de la fortificación de alimentos con ácido fólico y hasta 12 años después de su implementación. Se determinó el aporte de la fortificación al descenso en la TMI general. RESULTADOS: En 1987-1997, previo al período de fortificación de alimentos con ácido fólico, la prevalencia de DTN fue de 12/10 000 nacidos (IC95 por ciento: 11,1-12,8), mientras que en 2009 fue de 5,1/10 000 nacidos (3,3-6,5). La TMI por DTN en 1997 fue de 0,64/1 000 nacimientos (46-0,82) y en 2009 de 0,19/1 000 (0,09-0,3). La TMI por DTN y su prevalencia disminuyeron en forma significativa, 71 por ciento y 58 por ciento respectivamente (P < 0,05). La TMI general disminuyó de 14,2/1 000 nacidos en 1997 a 8,84/1 000 en 2009 (P < 0,05). El descenso en la TMI por DTN contribuyó a una caída de 8,8 por ciento en la TMI general entre 1997 y 2009. CONCLUSIONES: La fortificación de alimentos con ácido fólico provocó una reducción de DTN al nacimiento y de la TMI por esta malformación durante el período 1997-2009, así como también el descenso de la TMI general. Existe relación de temporalidad entre el inicio de las políticas de fortificación y el descenso de la prevalencia y mortalidad por DTN. Se debe pro-mover esta intervención en los países de América Latina y el Caribe donde todavía no ha sido implementada.

OBJECTIVE: Evaluate the impact of the fortification of food with folic acid on prevalence trends for neural tube defects (NTD) and the infant mortality rate (IMR) associated with this disorder in Costa Rica. METHODS: The surveillance data from the Congenital Disease Registry Center and the Central American Population Center were analyzed. The neural tube defects considered were anencephaly, spina bifida, and encephalocele. The trends from 1987-2009, as well as the differences in prevalence and mortality rates prior to and up to 12 years after food fortification with folic acid, were examined (95 percent confidence interval [CI]). The contribution of fortification to the decrease in the overall IMR was determined. RESULTS: During 1987-1997, prior to the period of food fortification with folic acid, NTD prevalence was 12/10 000 births (95 percent CI: 11.1-12.8), whereas in 2009 prevalence was 5.1/10 000 births (3.3-6.5). The IMR associated with NTD was 0.64/1 000 births (46-0.82) in 1997 and 0.19/1 000 births (0.09-9.3) in 2009. There were significant decreases in the IMR associated with NTD and the prevalence of NTD: 71 percent, and 58 percent, respectively (P < 0.05). The overall IMR decreased from 14.2/1 000 births in 1997 to 8.84/1 000 births in 2009 (P < 0.05). The decrease in the IMR associated with NTD contributed to an 8.8 percent decrease in the overall IMR from 1997 to 2009. CONCLUSIONS: Food fortification with folic acid caused a decrease in NTD at birth and the IMR associated with this malformation during the 1997-2009 period. It also led to a decrease in the overall IMR. There is a temporal relationship between the introduction of fortification policies and the decrease in prevalence and mortality associated with NTD. This intervention should be promoted in Latin American and Caribbean countries where it has not yet been implemented.

[Anencephaly related infant mortality in Argentina: spatial and temporal analysis (1998-2007)]. / Mortalidad infantil por anencefalia en la Argentina: Análisis espacial y temporal (1998-2007).

OBJECTIVE: Analyze the spatial and temporal distribution of infant mortality by anencephaly in Argentina in relation with folic acid fortification phases. POPULATION AND METHODS: Data came from certificates of live births and deaths in children under 1 year, for the 1998-2007 period (Argentine Ministry of Health). The infant mortality rate attributable to anencephaly for Argentina, geographical regions, provinces and departments were estimated according to the different phases of mandatory fortification with folic acid. Secular trend of infant mortality rate attributable to anencephaly and death risk due to anencephaly, spatial distribution by infant mortality rate attributable to anencephaly cluster and its correlation to latitude and longitude were also analyzed. RESULTS: Reduced risk of mortality due to anencephaly (53%) was observed at national level. The greatest decline occurred in Cuyo (69%) and lowest in the Northeast (35%) at regional level. Considerable infant mortality rate attributable to anencephaly heterogeneity was found at departmental level and less at provincial level. A cluster of 5.15/10 000 infant mortality rate attributable to anencephaly was identified in the northeast of Buenos Aires province, consisting of 29 departments, significantly different from the rest of the country. CONCLUSIONS: While there was a statistically significant negative secular trend of infant mortality rate attributable to anencephaly, spatial disparities persist. The geographical distribution of anencephaly would guide the search for environmental/ genetic risk factors and strengthen primary prevention strategies, through mandatory fortification, folate intake and folic acid supplementation.

Mortalidad infantil por anencefalia en la Argentina: análisis espacial y temporal (1998-2007) / Anencephaly related infant mortality in Argentina: spatial and temporal analysis (1998-2007)

Objetivo. Analizar la distribución espacial y temporal de la mortalidad infantil por anencefalia en la Argentina en relación a las fases del procesode fortificación con ácido fólico. Población y métodos. Los datos provinieron de los certificados de recién nacidos vivos y de defunción de menores de 1 año, período 1998-2007 (Ministerio de Salud). Se calculó: a) la tasa de mortalidad infantil por anencefalia para la Argentina, regiones geográficas, provincias y departamentos de acuerdo a las distintas fases de fortificación obligatoria con ácido fólico; b) la tendencia secular de la tasa de mortalidad infantil por anencefalia y el riesgo de mortalidad por anencefalia; c) la distribución espacial por análisis de agrupamiento y de su correlación conla latitud y la longitud geográficas. Resultados. Se observó a nivel nacional una reducción del riesgo de mortalidad por anencefalia del 53 por ciento. A nivel regional el mayor descenso se observó en Cuyo (69 por ciento) y el menor en el Noreste argentino (35 por ciento). Se constató una gran eterogeneidad a nivel departamental y, en menor medida, en el provincial. Se identificó un agrupamiento integrado por 29 partidos del norestede Buenos Aires con una tasa de mortalidad infantil por anencefalia de 5,15/10 000 nacidos vivos, significativamente mayor a la nacional,de 3,10/10 000 nacidos vivos. Conclusiones. Se observó una tendencia secular negativa estadísticamente significativa de la tasa de mortalidad infantil por anencefalia, pero persisten disparidades espaciales. La distribución geográfica de anencefalia permitiría orientar la búsqueda de factores de riesgo ambientales/genéticos y reforzar estrategias de prevención primaria, por medio de la fortificación obligatoria,el consumo de folatos y la suplementación con ácido fólico.(AU)

Objective. Analyze the spatial and temporal distribution of infant mortality by an encephaly in Argentina in relation with folic acid fortification phases.Population and methods. Data came from certificates of live births and deaths in children under 1 year, for the 1998-2007 period (Argentine Ministry of Health). The infant mortality rate attributable to an encephaly for Argentina, geographical regions, provinces and departments were estimated according to the different phases of mandatory fortification with folic acid. Secular trend of infant mortality rate attributable to anencephaly and death risk due to anencephaly, spatial distribution by infant mortality rate attributable to anencephaly cluster and its correlation to latitude and longitude were also analyzed. Results. Reduced risk of mortality due to anencephaly (53%) was observed at national level. The greatest decline occurred in Cuyo (69%) and lowest in the Northeast (35%) at regional level. Considerable infant mortality rate attributable to anencephaly heterogeneity was found at departmental level and less at provincial level. A cluster of 5.15/10 000 infant mortality rate attributable to anencephaly was identified in the northeast of Buenos Aires province, consisting of 29 departments, significantly different from the rest of the country. Conclusions. While there was a statistically significant negative secular trend of infant mortality rate attributable to anencephaly, spatial disparities persist. The geographical distribution of anencephaly would guide the search for environmental/ genetic risk factors and strengthen primary prevention strategies, through mandatory fortification, folate intake and folic acid supplementation.(AU)

Mortalidad infantil por anencefalia en la Argentina: análisis espacial y temporal (1998-2007) / Anencephaly related infant mortality in Argentina: spatial and temporal analysis (1998-2007)

Objetivo. Analizar la distribución espacial y temporal de la mortalidad infantil por anencefalia en la Argentina en relación a las fases del procesode fortificación con ácido fólico. Población y métodos. Los datos provinieron de los certificados de recién nacidos vivos y de defunción de menores de 1 año, período 1998-2007 (Ministerio de Salud). Se calculó: a) la tasa de mortalidad infantil por anencefalia para la Argentina, regiones geográficas, provincias y departamentos de acuerdo a las distintas fases de fortificación obligatoria con ácido fólico; b) la tendencia secular de la tasa de mortalidad infantil por anencefalia y el riesgo de mortalidad por anencefalia; c) la distribución espacial por análisis de agrupamiento y de su correlación conla latitud y la longitud geográficas. Resultados. Se observó a nivel nacional una reducción del riesgo de mortalidad por anencefalia del 53 por ciento. A nivel regional el mayor descenso se observó en Cuyo (69 por ciento) y el menor en el Noreste argentino (35 por ciento). Se constató una gran eterogeneidad a nivel departamental y, en menor medida, en el provincial. Se identificó un agrupamiento integrado por 29 partidos del norestede Buenos Aires con una tasa de mortalidad infantil por anencefalia de 5,15/10 000 nacidos vivos, significativamente mayor a la nacional,de 3,10/10 000 nacidos vivos. Conclusiones. Se observó una tendencia secular negativa estadísticamente significativa de la tasa de mortalidad infantil por anencefalia, pero persisten disparidades espaciales. La distribución geográfica de anencefalia permitiría orientar la búsqueda de factores de riesgo ambientales/genéticos y reforzar estrategias de prevención primaria, por medio de la fortificación obligatoria,el consumo de folatos y la suplementación con ácido fólico.

Objective. Analyze the spatial and temporal distribution of infant mortality by an encephaly in Argentina in relation with folic acid fortification phases.Population and methods. Data came from certificates of live births and deaths in children under 1 year, for the 1998-2007 period (Argentine Ministry of Health). The infant mortality rate attributable to an encephaly for Argentina, geographical regions, provinces and departments were estimated according to the different phases of mandatory fortification with folic acid. Secular trend of infant mortality rate attributable to anencephaly and death risk due to anencephaly, spatial distribution by infant mortality rate attributable to anencephaly cluster and its correlation to latitude and longitude were also analyzed. Results. Reduced risk of mortality due to anencephaly (53%) was observed at national level. The greatest decline occurred in Cuyo (69%) and lowest in the Northeast (35%) at regional level. Considerable infant mortality rate attributable to anencephaly heterogeneity was found at departmental level and less at provincial level. A cluster of 5.15/10 000 infant mortality rate attributable to anencephaly was identified in the northeast of Buenos Aires province, consisting of 29 departments, significantly different from the rest of the country. Conclusions. While there was a statistically significant negative secular trend of infant mortality rate attributable to anencephaly, spatial disparities persist. The geographical distribution of anencephaly would guide the search for environmental/ genetic risk factors and strengthen primary prevention strategies, through mandatory fortification, folate intake and folic acid supplementation.

Defecto del cierre del tubo neural: acrania: a propósito de un caso / Neural tube defect closing: acrania: a purpose of a case

Las malformaciones congénitas son un problema poco frecuente; considerando todas las malformaciones en conjunto, éstas se presentan en menos del 2 por ciento de los recién nacidos. Los defectos del cierre del tubo neural: anencefalia, espina bifida, acrania y meningocele, al igual que la mayoría de las malformaciones congénitas, son un grupo de afecciones de etiología multifactorial, producto de la interacción de factores genéticos y ambientales. Los factores genéticos actúan en un sistema poligenético, en el que se tienen que considerar los riesgos de recurrencia, cálculos de heredabilidad, la frecuencia de consanguineidad y las variaciones raciales, los factores ambientales, las infecciones virales, agentes físicos como la hipertemia (fiebre), deficiencia o alteraciones del metabolismo del ácido fólico, así como la exposición a diversas substancias químicas.

Anencefalia: presentación de un caso clínico / Anencephaly: a clinical case

La anencefalia es una malformación del sistema nervioso, causado por la falla del cierre del neuroporo anterior durante la embriogénesis. Su incidencia es de 1 en 1.000 embarazos en Estados Unidos. Los recién nacidos con anencefalia generalmente sobreviven sólo pocas horas o días, y excepcionalmente se han descrito casos de sobrevida de algunas semanas. Existen numeroso estudios que sugieren la existencia de factores genéticos y ambientales en la génesis de este trastorno, por ejemplo, mutaciones en el gen que codifica la enzima metilentetrahidrofolato reductasa, elevados niveles plasmáticos de homocisteína y bajos de folato en madres de niños con defectos del tubo neural y factores ambientales diversos. La mayoria de los casos son diagnosticados mediante ultrasonografía precozmente durante el embarazo (antes de las 20 semanas). Se presenta un caso clínico de recién nacido con anencefalia, en el Hospital de Salamanca, que tuvo una sobrevida excepcionalmente prolongada y se revisa el tema

Folate levels and N(5),N(10)-methylenetetrahydrofolate reductase genotype (MTHFR) in mothers of offspring with neural tube defects: a case-control study.

BACKGROUND: Neural tube defects (NTDs) have been associated with biochemical factors involved in the conversion of homocysteine to methionine as folate deficiency and the mutation 677T in the N(5),N(10)-methylenetetrahydrofolate reductase gene (MTHFR). METHODS: A case-control study was performed to detect this mutation in 38 unrelated women with NTD deceased products and 31 mothers without antecedents of NTD offspring. All products were born in Nuevo León (northeastern Mexico) during 1997. Erythrocyte and plasmatic folate levels and the genotype of the 677 polymorphism at the MTHFR locus were analyzed in both groups. RESULTS: Although no significant differences were found in mean blood folate levels, the percentage of women in the case group with erythrocyte folate levels <160 ng/mL was significantly higher than in the control group (75 vs. 51.2%, p <0.05). The proportion of women with plasma folate levels <3.5 ng/mL was higher in the case group (16.2 vs. 0%, p <0.01). Genotype analysis demonstrated a significantly higher proportion of 677T homozygous mothers with NTD products (39.6 vs. 9.1%, p <0.05). Allele frequencies for the 677T mutation were 0.55 and 0.36 for cases and controls, respectively. The odds ratio (OR) for having a NTD product was 6.1 (95%, CI 1.56-23.6) for homozygous 677T mothers vs. homozygous 677C and heterozygous mothers. Significantly low levels of erythrocyte folate were found in the 677C homozygous case group and in plasma folate in the 677C/677T heterozygous case mothers. CONCLUSIONS: Our study suggests that folate deficiency and MTHFR unfavorable genotype in mothers are important risk factors for severe NTD phenotype in our population.